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Intellectual disability v8.97 PI4K2A Sarah Leigh Tag Q3_24_promote_green was removed from gene: PI4K2A.
Tag Q3_24_NHS_review was removed from gene: PI4K2A.
Intellectual disability v8.97 PI4K2A Sarah Leigh reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.97 PI4K2A Sarah Leigh Source Expert Review Green was added to PI4K2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Classified gene: PI4K2A as Amber List (moderate evidence)
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with global developmental delay and/ or profound intellectual disability. Hence, this gene should be promoted to green rating in the next GMS update.
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Gene: pi4k2a has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Classified gene: PI4K2A as Amber List (moderate evidence)
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, there are four unrelated cases reported with global developmental delay and/ or profound intellectual disability. Hence, this gene should be promoted to green rating in the next GMS update.
Intellectual disability v8.13 PI4K2A Achchuthan Shanmugasundram Gene: pi4k2a has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.12 PI4K2A Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620732), but not yet in Gene2Phenotype.
Intellectual disability v8.12 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.11 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.11 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.10 PI4K2A Achchuthan Shanmugasundram Phenotypes for gene: PI4K2A were changed from Intellectual disability; developmental delay; seizures to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Intellectual disability v8.10 PI4K2A Achchuthan Shanmugasundram Publications for gene: PI4K2A were set to 30564627; 32418222'
Intellectual disability v8.10 PI4K2A Achchuthan Shanmugasundram Publications for gene: PI4K2A were set to 30564627; 35880319; 32418222
Intellectual disability v8.9 PI4K2A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PI4K2A.
Tag Q3_24_NHS_review tag was added to gene: PI4K2A.
Intellectual disability v8.9 PI4K2A Achchuthan Shanmugasundram reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.6 PI4K2A Tracy Lester gene: PI4K2A was added
gene: PI4K2A was added to Intellectual disability. Sources: NHS GMS
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 32418222
Phenotypes for gene: PI4K2A were set to Intellectual disability; developmental delay; seizures
Penetrance for gene: PI4K2A were set to unknown
Review for gene: PI4K2A was set to GREEN
Added comment: At least three cases have been reported with biallelic variants in this gene and a neurodevelopmental disorder
35880319 - Two patients with PI4K2A deficiency (homozygous variants) were identified by exome sequencing, presenting with developmental and epileptic-dyskinetic encephalopathy. Neuroimaging showed corpus callosum dysgenesis, diffuse white matter volume loss, and hypoplastic vermis. In addition to NDD, we observed recurrent infections and death at toddler age.
30564627 - We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of PI4K2A that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings.
32418222 - a homozygous missense variant of uncertain significance was suggested to be responsible for some features in a case with NDD and metabolic cutis laxa.
Sources: NHS GMS